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PubMed (cited) for id: 102565

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Page 1
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P. Ader F, et al. Clin Genet. 2019 Oct;96(4):317-329. doi: 10.1111/cge.13594. Epub 2019 Jul 18. Clin Genet. 2019. PMID: 31245841
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
Begay RL, Tharp CA, Martin A, Graw SL, Sinagra G, Miani D, Sweet ME, Slavov DB, Stafford N, Zeller MJ, Alnefaie R, Rowland TJ, Brun F, Jones KL, Gowan K, Mestroni L, Garrity DM, Taylor MR. Begay RL, et al. JACC Basic Transl Sci. 2016 Aug;1(5):344-359. doi: 10.1016/j.jacbts.2016.05.004. Epub 2016 Jul 27. JACC Basic Transl Sci. 2016. PMID: 28008423 Free PMC article.
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium; Gerull B. Brodehl A, et al. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8. Hum Mutat. 2016. PMID: 26666891
FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy.
Brun F, Gigli M, Graw SL, Judge DP, Merlo M, Murray B, Calkins H, Sinagra G, Taylor MR, Mestroni L, James CA. Brun F, et al. J Med Genet. 2020 Apr;57(4):254-257. doi: 10.1136/jmedgenet-2019-106394. Epub 2020 Jan 10. J Med Genet. 2020. PMID: 31924696 Free PMC article.
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Chevessier F, Schuld J, Orfanos Z, Plank AC, Wolf L, Maerkens A, Unger A, Schlötzer-Schrehardt U, Kley RA, Von Hörsten S, Marcus K, Linke WA, Vorgerd M, van der Ven PF, Fürst DO, Schröder R. Chevessier F, et al. Hum Mol Genet. 2015 Dec 20;24(25):7207-20. doi: 10.1093/hmg/ddv421. Epub 2015 Oct 15. Hum Mol Genet. 2015. PMID: 26472074
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Duff RM, et al. Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620354 Free PMC article.
21 results